ClinVar Miner

List of variants studied for craniosynostosis 4 by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (4):

Craniosynostosis 4
Craniosynostosis 4; Chitayat syndrome
Craniosynostosis 4; Torticollis; Plagiocephaly; Atypical behavior; High palate; Exotropia; Specific learning disability; Triangular face; Mild conductive hearing impairment; Abnormal facial skeleton morphology; Attention deficit hyperactivity disorder
Primary dilated cardiomyopathy; Epicanthus; Craniosynostosis 4; Delayed speech and language development; Delayed gross motor development; Sagittal craniosynostosis; Muscular ventricular septal defect

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006494.4(ERF):c.1049del (p.Leu350fs)	rs2036390617
NM_006494.4(ERF):c.891_892del (p.Gly299fs)	rs587777007

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